The goal of this training program is to recruit and educate physician-scientists and scientists who have the potential to become leaders in the field of Genetic Medicine. The program is designed to provide trainees with experience in all facets of modern medical genetics extending from the laboratory to the patient setting. The training experience emphasizes research in human genetics and prepares trainees for a career in academic medicine. Expertise in biochemical and molecular human genetics illustrates a distinctive strength of this program. Hopkins also provides leadership in the categorization and mapping of inherited traits, the study and management of patients with inborn errors of metabolism, the application of molecular, genomic and computational methods to the identification and understanding of multiple genes and their role in complex human disease, as well as the diagnosis, classification and treatment of disorders of connective tissue. The McKusick-Nathans Institute of Genetic Medicine houses the clinical, educational and research activities of human genetics of the Johns Hopkins School of Medicine. Since the last grant renewal, the Institute has undergone substantial growth with a doubling of faculty and research support. In addition, faculty offices and research laboratory facilities of the Institute have been consolidated in the newly opened Broadway Research Building adjacent to the Hospital. The training program has an outstanding track record of educating physician-scientists and scientists who have made and continue to make substantial contributions to human and medical genetics. Physicians desiring eligibility for Clinical Genetics Certification perform rotations in medical genetics with an emphasis on research implications. Stipend support for the majority of the clinical exposure is provided by the Johns Hopkins Hospital. Trainees obtain an intensive in-depth experience in genetic research that is supported by stipends from this grant. Trainees not desiring Clinical Certification may enter the research program directly. Research is performed under the auspices of a carefully selected mentor, with additional mentoring and career guidance by the Program Director to facilitate transfer to a productive independent research career. Two important additions have been made to the training program since the last competitive review. To maintain the strong emphasis on research training and to expand the number of physicians who will contribute to advancements in the field of genetic medicine, the program now coordinates combined training programs in pediatrics and genetics, maternal fetal medicine and genetics, and by 2006, internal medicine and genetics. Funding for the clinical rotations is provided by the Hospital, after which trainees enter the research program supported by this grant. Secondly, the Institute has established an Education Office that is very capably managed by Adel Gilbert, MS. The operational assistance provided by Ms. Gilbert allows the Program Director to maintain strong focus on the development of outstanding researchers in Genetic Medicine.